ORPHA:3168
Sillence syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sillence syndrome | |
| fr | Syndrome de Sillence | |
| de | Sillence-Syndrom | |
| es | Síndrome de Sillence | |
| it | Sindrome di Sillence | |
| nl | Syndroom van Sillence | |
| pt | Síndrome Sillence | Síndrome de braquidactilia-sinfalangismo |
| pl | Zespół Sillence | Zespół brachydaktylia-symfalangizm |
| cs | Sillencův syndrom | Syndrom zahrnující brachydaktylii a symfalangismus |
| uk | Синдром Сілленса | Синдром брахідактилії-симфалангізму |
| zh | Sillence综合征 | 短指（趾）畸形-指趾关节粘连综合征 |
| tr | Sillence sendromu | Brakidaktili-semfalangizm sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 113450 | E | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| MONDO | 0007227 | E | validated | |
| MeSH | C537338 | E | validated | |
| UMLS | C1862092 | E | validated | |
| GARD | 4869 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 671485[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
26 annotations · validated 2017-04-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0001761 | Pes cavus | |
| Frequent (79-30%) | ||
| HP:0010239 | Aplasia of the middle phalanx of the hand | |
| HP:0003180 | Flat acetabular roof | |
| HP:0001840 | Metatarsus adductus | |
| HP:0002650 | Scoliosis | |
| HP:0005819 | Short middle phalanx of finger | |
| Occasional (29-5%) | ||
| HP:0009832 | Abnormal distal phalanx morphology of finger | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0009834 | Abnormal proximal phalanx morphology of the hand | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0010052 | Abnormality of the proximal phalanx of the hallux | |
| HP:0003418 | Back pain | |
| HP:0001783 | Broad metatarsal | |
| HP:0011304 | Broad thumb | |
| HP:0001782 | Bulbous tips of toes | |
| HP:0012385 | Camptodactyly | |
| HP:0006170 | Chess-pawn distal phalanges | |
| HP:0000286 | Epicanthus | |
| HP:0008419 | Intervertebral disc degeneration | |
| HP:0008818 | Large iliac wings | |
| HP:0004679 | Large tarsal bones | |
| HP:0000300 | Oval face | |
| HP:0000926 | Platyspondyly | |
| HP:0009381 | Short finger | |
| HP:0001533 | Slender build | |
Annotation source: 671485[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3168
- This record as JSON: /data/d/3168.json